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t(10;11)(p11.2;q23) KMT2A/ABI1

Written2000-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2006-01Cristina Morerio, Claudio Panarello
Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1178
Note must not be confused with the t(10;11)(p12;q23) involving AF10 in 10p12 and MLL, or the t(10;11)(p13;q14-21), also involving AF10, but with CALM on chromosome 11

Clinics and Pathology

Disease acute myeloid leukemia (AML)
Phenotype / cell stem origin M4/M5
Epidemiology Only three cases reported to date: all infants (2M/1F).
Clinics Two boys aged 2 and 8 months respectively, achieved complete remission (1 yrs+, 5 yrs+), the newborn girl died soon for infection during induction.

Cytogenetics

 
  A. Partial Q-banded karyotype showing the t(10;11)(p11.2;q23), derivative chromosomes are on the right.
B. FISH using RP13-31H8 (ABI1) shows one signal on the normal chromosome 10 and the another one split between the p arm of der(10) (arrowheads) and the q arm of der(11) (arrow). The BAC clone was provided by Prof. M.Rocchi.

Genes involved and Proteins

Gene NameABI1 (Abl-Interactor 1)
Location 10p12.1
Dna / Rna different splicings
Protein possesses a SH3 domain; cell growth inhibitor
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 13-15 kb mRNA
Protein 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3' ABI1; fusion at MLL exon 6-7.
The breakpoint of ABI1 gene is the same in the two cases studied (nucleotide 433), while the breakpoint of MLL can be located either in exon 6 or 7.
  
Fusion Protein
Description 1727 amino acids (1406 from MLL and 321 from ABI-1); NH2- AT-hook, DNA methyltransferase, and transcriptional repression domain of MLL, fused to the homeodomain homologous region and the SH3 domain of ABI-1 in COOH.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Is t(10;11)(p11.2;q23) involving MLL and ABI-1 genes associated with congenital acute monocytic leukemia?
Morerio C, Rosanda C, Rapella A, Micalizzi C, Panarello C
Cancer genetics and cytogenetics. 2002 ; 139 (1) : 57-59.
PMID 12547160
 
t(10;11)-acute leukemias with MLL-AF10 and MLL-ABI1 chimeric transcripts: specific expression patterns of ABI1 gene in leukemia and solid tumor cell lines.
Shibuya N, Taki T, Mugishima H, Chin M, Tsuchida M, Sako M, Kawa K, Ishii E, Miura I, Yanagisawa M, Hayashi Y
Genes, chromosomes & cancer. 2001 ; 32 (1) : 1-10.
PMID 11477655
 
ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23).
Taki T, Shibuya N, Taniwaki M, Hanada R, Morishita K, Bessho F, Yanagisawa M, Hayashi Y
Blood. 1998 ; 92 (4) : 1125-1130.
PMID 9694699
 

Citation

This paper should be referenced as such :
Morerio, C ; Panarello, C
t(10;11)(p11.2;q23)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):186-187.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1011ID1178.html
History of this paper:
Huret, JL. t(10;11)(p11.2;q23). Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):75-75.
http://documents.irevues.inist.fr/bitstream/handle/2042/37621/04-2000-t1011ID1178.pdf


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes ABI1 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(10;11)(p11.2;q23) KMT2A/ABI1

External links

KMT2A (11q23.3) ABI1 (10p12.1)

KMT2A (11q23.3) ABI1 (10p12.1)

Mitelman databaset(10;11)(p11.2;q23) [Case List]    t(10;11)(p11.2;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/ABI1 KMT2A (11q23.3) ABI1 (10p12.1)   [fusion1864]   [fusion1865]   [fusion1866]   [fusion1867]  
TICdbKMT2A/ABI1  KMT2A (11q23.3) ABI1 (10p12.1)
 
Disease databaset(10;11)(p11.2;q23) KMT2A/ABI1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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